Orpha Number: 2899
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|5%-29% of people have these symptoms|
|Hypoplasia of the maxilla||
Decreased size of maxilla
Decreased size of upper jaw
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
|Herniation of intervertebral nuclei||0008441|
|Intervertebral space narrowing||0002945|
Decreased width of tooth
|Mitral valve prolapse||0001634|
|Narrow vertebral interpedicular distance||0008450|
Failure of development of more than six teeth
Decreased body height
Small stature[ more ]
|Widely spaced teeth||
Widely-spaced teeth[ more ]
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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